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Abstract
Abstract Background:Estrogens, acting through their cellular receptors namely alpha and beta, have a role in the development of systemic lupus erythematosus (SLE). Objectives: To investigate whether polymorphisms of ESR1 and ESR2 genes is related to the susceptibility of juvenile (jSLE) and adult Systemic lupus erythematosus (aSLE) and to detect their association with clinical and laboratory characteristics of the disease. Methods: Genomic DNA was extracted from 32 adult onset SLE (aSLE), 33 juvenile onset SLE (jSLE) and 60 age and gender matched controls. Genotyping of ESR1 and ESR2 was done using the restriction fragment length polymorphism (RFLP) and tetra primer ARM-PCR methods respectively. Results: There was a statistically significant difference in the genetic polymorphisms of ESR2 between the two studied groups (aSLE, jSLE) and the control group as regards the homomutant AA genotype (OR:0.058, p value: 0.000) and the A allele(OR: 0.195, p value:0.007) in case of aSLE, and in homomutant AA genotype (OR:0.269, p value:0.017) and the A allele (OR: 0.397, p value: 0.003) in case of jSLE but the study could not find any statistically significant difference in the genetic polymorphisms of ESR1 between the control and the two groups. Conclusion: This study revealed that ESR1 genetic polymorphism is not genetic risk or protective factor for neither aSLE nor jSLE susceptibility, but ESR2 genetic polymorphism is reported as protective factor for aSLE and jSLE among our studied population. Certain alleles are associated with certain clinical and laboratory parameters.
Highlights
Systemic lupus erythematosus (SLE) is a prototype for systemic human autoimmune disease affecting most major organ systems [1]
Genotyping of ESR1 gene polymorphism by Polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) technique revealed no statistical significant difference between the patients and the controls while statistical significant difference was found between the patients and the control regarding the ESR2 (AA genotype and G,A alleles) (Table 2)
Statistical significant difference was found between the patients and the control regarding the ESR2 genetic polymorphism as regards homomutant (AA) and the polymorphic allele (A) allele of ESR2 gene, which is significantly lower in adult systemic lupus erythematosus (SLE) patients compared to controls
Summary
Systemic lupus erythematosus (SLE) is a prototype for systemic human autoimmune disease affecting most major organ systems [1]. The reported prevalence of systemic lupus erythematosus (SLE) in the population is 20 to 150 cases per 100,000 [2]. Both geography and race affect the prevalence of SLE and of frequency and severity of clinical and laboratory manifestations [3]. The peak incidence of SLE occurs in the reproductive period, and a postmenopausal onset of SLE is relatively uncommon [8]. Estrogens, acting through their cellular receptors namely alpha and beta, have a role in the development of systemic lupus erythematosus (SLE)
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